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tetraamelia-multiple malformations syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

tetraamelia-multiple malformations syndrome

MONDO:0010110

Also known as:Zimmer phocomeliaTETAMSTETRAAMELIA syndrome, autosomal recessive

Overview

Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Aplasia/Hypoplasia involving the nose, Orofacial cleft, Hydrocephalus, and Polyhydramnios and others; and common findings: Multicystic kidney dysplasia, Cryptorchidism, Small scrotum, and Vaginal atresia and others.

Organ System	Phenotype Count	Example Features
Eyes	3	Cataract, Damage to the optic nerve (optic atrophy), Septo-optic dysplasia

Diagnosis

Biomarker and diagnostic research for tetraamelia-multiple malformations syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 8 very common features, 27 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for tetraamelia-multiple malformations syndrome.

204 publications have been identified in PubMed for tetraamelia-multiple malformations syndrome. Research spans Review / Meta-Analysis (44%), Case Report / Case Series (25%), and Basic Science / Preclinical (12%).

Research Type	Count	% of Total
Research summaries	76	44%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 1:03 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:3301

GARD

Genetic and Rare Diseases Info Center

GARD:386

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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tetraamelia-multiple malformations syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

tetraamelia-multiple malformations syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications